A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12588



Internal ID15836591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:70361956..70383871hg38UCSC Ensembl
Outerchr4:70361473..70384350hg38UCSC Ensembl
Innerchr4:71227673..71249588hg19UCSC Ensembl
Outerchr4:71227190..71250067hg19UCSC Ensembl
Innerchr4:71262262..71284177hg18UCSC Ensembl
Outerchr4:71261779..71284656hg18UCSC Ensembl
Innerchr4:71408433..71430348hg17UCSC Ensembl
Outerchr4:71407950..71430827hg17UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3822878
hg1922878
hg1822878
hg1722878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10525
Supporting Variants
SamplesNA18564
Known GenesSMR3A, SMR3B
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv12588
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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